• Gene id: 3290

Gene Summary

• Gene Symbol: HSD11B1   Gene   UCSC   Ensembl
• Aliases: 11-DH, 11-beta-HSD1, CORTRD2, HDL, HSD11, HSD11B, HSD11L, SDR26C1
• Gene name: hydroxysteroid 11-beta dehydrogenase 1
• Alternate names: corticosteroid 11-beta-dehydrogenase isozyme 1, short chain dehydrogenase/reductase family 26C member 1,
• Gene location: 1q32.2 (209686179: 209734949)     Exons: 7     NC_000001.11
• Gene summary(Entrez): The protein encoded by this gene is a microsomal enzyme that catalyzes the conversion of the stress hormone cortisol to the inactive metabolite cortisone. In addition, the encoded protein can catalyze the reverse reaction, the conversion of cortisone to c
• OMIM: 600713

Protein Summary

• Protein general information: P28845  
  • Name: Corticosteroid 11 beta dehydrogenase isozyme 1 (EC 1.1.1.146) (11 beta hydroxysteroid dehydrogenase 1) (11 DH) (11 beta HSD1) (Short chain dehydrogenase/reductase family 26C member 1)
  • Length: 292  
  • Mass: 32401
  • Tissue specificity: Widely expressed. Highest expression in liver.
• Sequence:

  MAFMKKYLLPILGLFMAYYYYSANEEFRPEMLQGKKVIVTGASKGIGREMAYHLAKMGAHVVVTARSKETLQKVV
  SHCLELGAASAHYIAGTMEDMTFAEQFVAQAGKLMGGLDMLILNHITNTSLNLFHDDIHHVRKSMEVNFLSYVVL
  TVAALPMLKQSNGSIVVVSSLAGKVAYPMVAAYSASKFALDGFFSSIRKEYSVSRVNVSITLCVLGLIDTETAMK
  AVSGIVHMQAAPKEECALEIIKGGALRQEEVYYDSSLWTTLLIRNPCRKILEFLYSTSYNMDRFINK

• Structural information:
  • Interpro: IPR036291  IPR020904  IPR002347  
  • Prosite: PS00061
  • PDB: 1XU7 1XU9 2BEL 2ILT 2IRW 2RBE 3BYZ 3BZU 3CH6 3CZR 3D3E 3D4N 3D5Q 3EY4 3FCO 3FRJ 3H6K 3HFG 3OQ1 3PDJ 3QQP 3TFQ 4BB5 4BB6 4C7J 4C7K 4HFR 4HX5 4IJU 4IJV 4IJW 4K1L 4P38 4YYZ 5PGU 5PGV 5PGW 5PGX 5PGY 5QII
  • PDBsum: 1XU7 1XU9 2BEL 2ILT 2IRW 2RBE 3BYZ 3BZU 3CH6 3CZR 3D3E 3D4N 3D5Q 3EY4 3FCO 3FRJ 3H6K 3HFG 3OQ1 3PDJ 3QQP 3TFQ 4BB5 4BB6 4C7J 4C7K 4HFR 4HX5 4IJU 4IJV 4IJW 4K1L 4P38 4YYZ 5PGU 5PGV 5PGW 5PGX 5PGY 5QII
  • DIP: 59618
  • STRING: ENSP00000355995
• Other Databases: GeneCards:  HSD11B1  Malacards:  HSD11B1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003845	11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity	IBA	molecular function
GO:0005496	steroid binding	IBA	molecular function
GO:0006706	steroid catabolic process	IBA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0008202	steroid metabolic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0070524	11-beta-hydroxysteroid dehydrogenase (NADP+) activity	IEA	molecular function
GO:0006704	glucocorticoid biosynthetic process	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0003845	11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity	IEA	molecular function
GO:0030324	lung development	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0050661	NADP binding	IDA	molecular function
GO:0050661	NADP binding	IDA	molecular function
GO:0050661	NADP binding	IDA	molecular function
GO:0050661	NADP binding	IDA	molecular function
GO:0050661	NADP binding	IDA	molecular function
GO:0050661	NADP binding	IDA	molecular function
GO:0070524	11-beta-hydroxysteroid dehydrogenase (NADP+) activity	IDA	molecular function
GO:0070524	11-beta-hydroxysteroid dehydrogenase (NADP+) activity	IDA	molecular function
GO:0070524	11-beta-hydroxysteroid dehydrogenase (NADP+) activity	IDA	molecular function
GO:0070524	11-beta-hydroxysteroid dehydrogenase (NADP+) activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0030176	integral component of endoplasmic reticulum membrane	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05204	Chemical carcinogenesis
hsa00980	Metabolism of xenobiotics by cytochrome P450
hsa00140	Steroid hormone biosynthesis

Diseases

Associated diseases	References
Globozoospermia	MIK: 16551740
Male factor infertility	MIK: 16551740
Globozoospermia	MIK: 16551740
Cortisone reductase deficiency	KEGG:H01111
Cortisone reductase deficiency	KEGG:H01111
Cortisone reductase deficiency	PMID:12858176
obesity	PMID:16914598
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)